Functional consequences of calmodulin variants identified among schizophrenia patients and controls.

ABSTRACT: Calmodulin is a vital cellular calcium sensor expressed by the genes CALM1-3. Ultra-rare loss-of-function missense variants in the C-terminal lobe (C-lobe) of calmodulin are linked to cardiac arrhythmia, primarily long QT syndrome. Emerging evidence suggests calmodulin variants also contribute to neurological disorders. This study explores the allelic spectrum and functional consequences of calmodulin variants in schizophrenia. In a large-scale sequencing effort involving 24,248 schizophrenia patients and 97,322 control individuals, 25 unique calmodulin variants were found in 27 carriers, all ultra-rare. Seven carriers were schizophrenia patients, and 20 were controls. All patient variants affected the C-lobe, while only five of 20 control variants were in the C-lobe, linking C-lobe varian

SUBMITTER: Jensen HH 

PROVIDER: S-EPMC12711917 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature